Variant report

Variant	rs28506837
Chromosome Location	chr2:234310435-234310436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10177761	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10181039	1.00[EUR][1000 genomes]
rs10193542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11888993	0.85[EUR][1000 genomes]
rs11892545	0.93[EUR][1000 genomes]
rs13391864	0.88[EUR][1000 genomes]
rs13392183	0.90[EUR][1000 genomes]
rs13400471	0.80[EUR][1000 genomes]
rs13400563	0.93[EUR][1000 genomes]
rs13403169	0.89[EUR][1000 genomes]
rs13414407	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419277	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425849	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305541	0.83[ASN][1000 genomes]
rs28444082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588417	0.88[EUR][1000 genomes]
rs3762591	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59458664	0.85[ASN][1000 genomes]
rs6713866	0.90[EUR][1000 genomes]
rs73115402	0.82[AFR][1000 genomes]
rs73117507	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117519	0.82[AFR][1000 genomes]
rs7572257	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:234272800-234313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:234294600-234318800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:234295400-234313000	Weak transcription	Small Intestine	intestine
6	chr2:234295800-234318200	Weak transcription	K562	blood
7	chr2:234297200-234310600	Weak transcription	Fetal Brain Female	brain
8	chr2:234297200-234310600	Weak transcription	HUVEC	blood vessel
9	chr2:234297200-234311000	Weak transcription	Fetal Brain Male	brain
10	chr2:234297200-234311400	Weak transcription	Brain Substantia Nigra	brain
11	chr2:234297200-234314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:234297200-234316800	Weak transcription	Aorta	Aorta
13	chr2:234297200-234317000	Weak transcription	Placenta	Placenta
14	chr2:234297200-234317000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:234297200-234317200	Weak transcription	Pancreas	Pancrea
16	chr2:234297200-234317400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:234297200-234317400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:234297200-234318600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:234297200-234319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:234297200-234319000	Weak transcription	Fetal Kidney	kidney
21	chr2:234297200-234319400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:234297200-234322000	Weak transcription	Hela-S3	cervix
23	chr2:234297200-234322200	Weak transcription	Brain Anterior Caudate	brain
24	chr2:234297400-234316200	Weak transcription	Fetal Lung	lung
25	chr2:234298000-234314600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:234298000-234317200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:234298600-234316200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:234299200-234316000	Weak transcription	Osteobl	bone
29	chr2:234299200-234319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:234299200-234319200	Weak transcription	NHEK	skin
31	chr2:234299400-234310800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:234300000-234318200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:234301200-234319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:234301800-234315200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:234303000-234319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:234304800-234311000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:234305400-234311000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:234305400-234313400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:234305400-234317200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:234305400-234319000	Weak transcription	HSMMtube	muscle
41	chr2:234305400-234319200	Weak transcription	HSMM	muscle
42	chr2:234306400-234318000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:234306600-234311400	Weak transcription	HepG2	liver
44	chr2:234307200-234310600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:234307200-234311800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:234307200-234320200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:234307600-234310800	Genic enhancers	A549	lung
48	chr2:234307600-234311400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:234307800-234310800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:234308000-234311000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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